DDX3X syndrome (original) (raw)
DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual disability, autism, ADHD, and low muscle tone. The syndrome develops due to mutations of the DDX3X gene located on the X chromosome, and the clinical picture varies depending on the specific mutation.
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| dbo:abstract | DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual disability, autism, ADHD, and low muscle tone. The syndrome develops due to mutations of the DDX3X gene located on the X chromosome, and the clinical picture varies depending on the specific mutation. (en) DDX3X-синдром — генетическое заболевание, развивающееся преимущественно у лиц женского пола. У пациентов наблюдается задержка умственного развития, признаки аутизма, СДВГ, сниженный мышечный тонус. Причина развития синдрома — мутации, затрагивающие ген , расположенный на X-хромосоме. Клиническая картина зависит от характера конкретной мутации. (ru) |
| dbo:thumbnail | wiki-commons:Special:FilePath/Facial_features_of_children_with_DDX3X_syndrome.png?width=300 |
| dbo:wikiPageExternalLink | https://omim.org/entry/300958 |
| dbo:wikiPageID | 70772067 (xsd:integer) |
| dbo:wikiPageLength | 3344 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1124681106 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Specific_developmental_disorder dbr:Autism dbc:X-linked_dominant_disorders dbr:DDX3X dbc:Genetic_diseases_and_disorders dbr:Hypotonia dbr:Attention_deficit_hyperactivity_disorder dbc:X-linked_recessive_disorders dbr:X_chromosome dbr:Intellectual_disability dbr:OMIM dbr:File:Facial_features_of_children_with_DDX3X_syndrome.png |
| dbp:wikiPageUsesTemplate | dbt:Genetic-disorder-stub dbt:Reflist dbt:Short_description dbt:Nervoussystem-disease-stub |
| dcterms:subject | dbc:X-linked_dominant_disorders dbc:Genetic_diseases_and_disorders dbc:X-linked_recessive_disorders |
| rdfs:comment | DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual disability, autism, ADHD, and low muscle tone. The syndrome develops due to mutations of the DDX3X gene located on the X chromosome, and the clinical picture varies depending on the specific mutation. (en) DDX3X-синдром — генетическое заболевание, развивающееся преимущественно у лиц женского пола. У пациентов наблюдается задержка умственного развития, признаки аутизма, СДВГ, сниженный мышечный тонус. Причина развития синдрома — мутации, затрагивающие ген , расположенный на X-хромосоме. Клиническая картина зависит от характера конкретной мутации. (ru) |
| rdfs:label | DDX3X syndrome (en) DDX3X-синдром (ru) |
| owl:sameAs | wikidata:DDX3X syndrome dbpedia-ru:DDX3X syndrome https://global.dbpedia.org/id/GQtxj |
| prov:wasDerivedFrom | wikipedia-en:DDX3X_syndrome?oldid=1124681106&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Facial_features_of_children_with_DDX3X_syndrome.png |
| foaf:isPrimaryTopicOf | wikipedia-en:DDX3X_syndrome |
| is dbo:wikiPageRedirects of | dbr:X-linked_mental_retardation_102 |
| is dbo:wikiPageWikiLink of | dbr:DDX3X dbr:X-linked_intellectual_disability dbr:X-linked_mental_retardation_102 |
| is foaf:primaryTopic of | wikipedia-en:DDX3X_syndrome |
